Richard P Widmer

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.

Papillon-Lefèvre syndrome, or keratosis palmoplantaris with periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained by dentists because of the severe periodontitis that afflicts patients. Both the deciduous and permanent dentitions are affected, resulting in premature tooth loss. Palmoplantar keratosis, varying from mild psoriasiform scaly skin to overt hyperkeratosis, typically develops within the first three years of life. Keratosis also affects other sites such as elbows and knees. Most PLS patients display both periodontitis and hyperkeratosis. Some patients have only palmoplantar keratosis or periodontitis, and in rare individuals the periodontitis is mild and of late onset. The PLS locus has been mapped to chromosome 11q14–q21 (refs 7, 8, 9). Using homozygosity mapping in eight small consanguineous families, we have narrowed the candidate region to a 1.2-cM interval between D11S4082 and D11S931. The gene (CTSC) encoding the lysosomal protease cathepsin C (or dipeptidyl aminopeptidase I) lies within this interval. We defined the genomic structure of CTSC and found mutations in all eight families. In two of these families we used a functional assay to demonstrate an almost total loss of cathepsin C activity in PLS patients and reduced activity in obligate carriers.

A case of neurocristopathy that manifests facial clefting and maxillary duplication

A case of a 6-year-old child with three facial clefts and maxillary duplication is presented. Computerized three-dimensional reconstruction from computerized tomography imaging was used in the diagnosis of this patient, and an explanation of the possible embryologic causes of this malformation is discussed.

7 – Pulp therapy for primary and immature permanent teeth

Methods Recommendations on pulp therapy for primary and immature permanent teeth were developed by the Clinical Affairs Committee – Pulp Therapy Subcommittee and adopted in 1991. This document by the Council of Clinical Affairs is a revision of the previous version, last revised in 2009. This revision included a new systematic literature search of the PubMed®/MEDLINE database using the terms: pulpotomy, pulpectomy, indirect pulp treatment, stepwise excavation, pulp therapy, pulp capping, pulp exposure, bases, liners, calcium hydroxide, formocresol, ferric sulfate, glass ionomer, mineral trioxide aggregate (MTA), bacterial microleakage under restorations, dentin bonding agents, resin modified glass ionomers, and endodontic irrigants; fields: all. Papers for review were chosen from the resultant lists and from hand searches. When data did not appear sufficient or were inconclusive, recommendations were based upon expert and/or consensus opinion including those from the 2007 joint symposium of the AAPD and the American Association of Endodontists (AAE) titled Emerging Science in Pulp Therapy: New Insights into Dilemmas and Controversies (Chicago, Ill.)